ORPHA:438207
Severe autosomal recessive macrothrombocytopenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe autosomal recessive macrothrombocytopenia | |
| fr | Macrothrombocytopénie sévère autosomique récessive | |
| de | Makrothrombozytopenie, schwere, autosomal-rezessive | |
| es | Macrotrombocitopenia grave autosómica recesiva | |
| it | Macrotrombocitopenia grave autosomica recessiva | |
| nl | Ernstige autosomaal recessieve macrotrombocytopenie | |
| pt | Macrotrombocitopenia autossómica recessiva grave | |
| pl | Ciężka autosomalna recesywna makrotrombocytopenia | |
| cs | Těžká autozomálně recesivní makrotrombocytopenie | |
| uk | Тяжка аутосомно-рецесивна макротромбоцитопенія | |
| zh | 严重常染色体隐性遗传性巨血小板减少症 | |
| tr | Ağır otozomal resesif makrotrombositopeni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616176 | BTNT | validated | |
| OMIM | 620757 | BTNT | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.01 | NTBT | attributed | validated |
| MONDO | 0014518 | E | validated | |
| UMLS | C5569048 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:220452Isolated hereditary giant platelet disorder
rare genetic diseases; rare hematological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKACG | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9382 | ENSG00000165059 | 176893 | 9q21.11 | protein kinase cAMP-activated catalytic subunit gamma | 25061177[PMID] |
| GNE | Disease-causing germline mutation(s) in | Assessed | HGNC:23657 | ENSG00000159921 | 603824 | 9p13.3 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | 30171045[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25061177[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25061177[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438207
- This record as JSON: /data/d/438207.json